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Solute Carrier Family 2 Member 1 Gene Mutation Presenting as Adult-Onset Paroxysmal Exercise-Induced Dyskinesia Without Epilepsy

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참고문헌 (10)

  1. Suls A, "Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1", Brain, 131, pp.1831~1844 (2008)
  2. ". In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews®" (2018)[URL]
  3. Leen WG, "Glucose transporter-1 deficiency syndrome : the expanding clinical and genetic spectrum of a treatable disorder", Brain, 133, pp.655~670 (2010)
  4. Schneider SA, "GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias", Mov Disord, 24, pp.1684~1688 (2009)
  5. Ruiz Herrero J, "Classic ketogenic diet and modified atkins diet in SLC2A1 positive single center analysis of 18 cases", Nutrients, 13, pp.840~ (2021)
  6. Sondhi V, "Efficacy of ketogenic diet, modified atkins diet, and low glycemic index therapy diet among children with drug-resistant epilepsy : a randomized clinical trial", JAMA Pediatr, 174, pp.944~951 (2020)
  7. Ito Y, "Nationwide survey of glucose transporter-1 deficiency syndrome(GLUT-1DS)in Japan", Brain Dev, 37, pp.780~789 (2015)
  8. Hanci I, "Long-term effect of GPi-DBS in a patient with generalized dystonia due to GLUT1 deficiency syndrome", Front Neurol, 9, pp.381~ (2018)
  9. De Giorgis V, "Sporadic and familial glut1ds Italian patients : a wide clinical variability", Seizure, 24, pp.28~32 (2015)
  10. Silveira-Moriyama L, "Phenotypes, genotypes, and the management of paroxysmal movement disorders", Dev Med Child Neurol, 60, pp.559~565 (2018)

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